CardioClassifier: disease- and gene-specific computational decision support for clinical genome interpretation
Sign Up to like & getrecommendations! Published in 2018 at "Genetics in Medicine"
DOI: 10.1038/gim.2017.258
Abstract: PurposeInternationally adopted variant interpretation guidelines from the American College of Medical Genetics and Genomics (ACMG) are generic and require disease-specific refinement. Here we developed CardioClassifier (http://www.cardioclassifier.org), a semiautomated decision-support tool for inherited cardiac conditions (ICCs).MethodsCardioClassifier… read more here.
Keywords: interpretation; disease gene; disease; decision support ... See more keywords
Machine learning-based approaches for disease gene prediction.
Sign Up to like & getrecommendations! Published in 2020 at "Briefings in functional genomics"
DOI: 10.1093/bfgp/elaa013
Abstract: Disease gene prediction is an essential issue in biomedical research. In the early days, annotation-based approaches were proposed for this problem. With the development of high-throughput technologies, interaction data between genes/proteins have grown quickly and… read more here.
Keywords: machine learning; disease gene; gene prediction; disease genes ... See more keywords
NIDM: network impulsive dynamics on multiplex biological network for disease-gene prediction
Sign Up to like & getrecommendations! Published in 2021 at "Briefings in bioinformatics"
DOI: 10.1093/bib/bbab080
Abstract: The prediction of genes related to diseases is important to the study of the diseases due to high cost and time consumption of biological experiments. Network propagation is a popular strategy for disease-gene prediction. However,… read more here.
Keywords: disease gene; network; disease; gene prediction ... See more keywords
Online in silico validation of disease and gene sets, clusterings or subnetworks with DIGEST
Sign Up to like & getrecommendations! Published in 2022 at "Briefings in bioinformatics"
DOI: 10.1093/bib/bbac247
Abstract: As the development of new drugs reaches its physical and financial limits, drug repurposing has become more important than ever. For mechanistically grounded drug repurposing, it is crucial to uncover the disease mechanisms and to… read more here.
Keywords: disease; validation; disease gene; sets clusterings ... See more keywords
Biological Random Walks: multi-omics integration for disease gene prioritization
Sign Up to like & getrecommendations! Published in 2022 at "Bioinformatics"
DOI: 10.1093/bioinformatics/btac446
Abstract: MOTIVATION Over the past decade, network-based approaches have proven useful in identifying disease modules within the human interactome, often providing insights into key mechanisms and guiding the quest for therapeutic targets. This is all the… read more here.
Keywords: random walks; disease; disease gene; biological random ... See more keywords
PGA: post-GWAS analysis for disease gene identification
Sign Up to like & getrecommendations! Published in 2018 at "Bioinformatics"
DOI: 10.1093/bioinformatics/btx845
Abstract: Summary Although the genome-wide association study (GWAS) is a powerful method to identify disease-associated variants, it does not directly address the biological mechanisms underlying such genetic association signals. Here, we present PGA, a Perl- and… read more here.
Keywords: post gwas; disease gene; disease; gwas ... See more keywords
eDGAR: a database of Disease-Gene Associations with annotated Relationships among genes
Sign Up to like & getrecommendations! Published in 2017 at "BMC Genomics"
DOI: 10.1186/s12864-017-3911-3
Abstract: BackgroundGenetic investigations, boosted by modern sequencing techniques, allow dissecting the genetic component of different phenotypic traits. These efforts result in the compilation of lists of genes related to diseases and show that an increasing number… read more here.
Keywords: disease gene; disease; among genes; gene associations ... See more keywords
DigChem: Identification of disease-gene-chemical relationships from Medline abstracts
Sign Up to like & getrecommendations! Published in 2019 at "PLoS Computational Biology"
DOI: 10.1371/journal.pcbi.1007022
Abstract: Chemicals interact with genes in the process of disease development and treatment. Although much biomedical research has been performed to understand relationships among genes, chemicals, and diseases, which have been reported in biomedical articles in… read more here.
Keywords: gene chemical; medline abstracts; chemical relationships; disease gene ... See more keywords
Systematic identification of latent disease-gene associations from PubMed articles
Sign Up to like & getrecommendations! Published in 2018 at "PLoS ONE"
DOI: 10.1371/journal.pone.0191568
Abstract: Recent scientific advances have accumulated a tremendous amount of biomedical knowledge providing novel insights into the relationship between molecular and cellular processes and diseases. Literature mining is one of the commonly used methods to retrieve… read more here.
Keywords: disease gene; gene associations; latent disease; disease ... See more keywords
An Exploratory Study Investigating Autonomy in Huntington's Disease Gene Expansion Carriers.
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Huntington's disease"
DOI: 10.3233/jhd-220540
Abstract: BACKGROUND Autonomy describes a psychological state of self-regulation of motivation and action, which is a central characteristic of healthy functioning. In neurodegenerative diseases measures of self-perception have been found to be affected by the disease.… read more here.
Keywords: huntington disease; disease; gene expansion; disease gene ... See more keywords
Identifying Disease-Gene Associations With Graph-Regularized Manifold Learning
Sign Up to like & getrecommendations! Published in 2019 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2019.00270
Abstract: Complex diseases are known to be associated with disease genes. Uncovering disease-gene associations is critical for diagnosis, treatment, and prevention of diseases. Computational algorithms which effectively predict candidate disease-gene associations prior to experimental proof can… read more here.
Keywords: known associated; disease gene; disease; manifold learning ... See more keywords